Variants with conflicting interpretations studied for Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Minimum review status of the submission for Emery-Dreifuss muscular dystrophy 4, autosomal dominant:		Collection method of the submission for Emery-Dreifuss muscular dystrophy 4, autosomal dominant:
Minimum review status of the other submission:		Collection method of the other submission:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition	Variants with at least 2 submissions on the same condition and no conflicts	Variants with a synonymous conflict (e.g. benign vs non-pathogenic)	Variants with a confidence conflict (e.g. benign vs likely benign)	Variants with a benign or likely benign vs uncertain conflict	Variants with a category conflict (e.g. benign vs affects)	Variants with a clinically significant conflict (e.g. benign vs pathogenic)	Variants with any conflict
596	15	0	0	6	0	1	7

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

	All conditions
Emery-Dreifuss muscular dystrophy 4, autosomal dominant		pathogenic	uncertain significance	likely benign	benign
	pathogenic	0	0	1	0
	uncertain significance	0	0	1	5
	likely benign	1	1	0	0
	benign	0	5	0	0

Condition to condition summary #

Total conditions: 1

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Condition	Variants with only 1 submission per condition	Variants with at least 2 submissions on the same condition and no conflicts	Variants with a synonymous conflict (e.g. benign vs non-pathogenic)	Variants with a confidence conflict (e.g. benign vs likely benign)	Variants with a benign or likely benign vs uncertain conflict	Variants with a category conflict (e.g. benign vs affects)	Variants with a clinically significant conflict (e.g. benign vs pathogenic)	Variants with any conflict
Emery-Dreifuss muscular dystrophy 4, autosomal dominant	596	15	0	0	6	0	1	7

All variants with conflicting interpretations #

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_182961.4(SYNE1):c.4107T>A (p.Phe1369Leu)	rs149109801	0.00172
NM_182961.4(SYNE1):c.6339T>C (p.Thr2113=)	rs141671123	0.00106
NM_182961.4(SYNE1):c.25381G>A (p.Glu8461Lys)	rs119103248	0.00083
NM_182961.4(SYNE1):c.16831C>T (p.Arg5611Trp)	rs369292604	0.00017
NM_182961.4(SYNE1):c.22783A>G (p.Ile7595Val)	rs146320179	0.00014
NM_182961.4(SYNE1):c.21377A>G (p.Lys7126Arg)	rs145882956	0.00011
NM_182961.4(SYNE1):c.13331G>A (p.Arg4444Gln)	rs139075013	0.00004

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